【佳学基因检测】分子诊断前为什么要问分子诊断机构是否包含EYA1基因？

基因检测的序列名称：

EYA1

人体基因序列变化与疾病表征数据库中的基因代码：

2138

人体基因序列数据库中国际交流名称全称

EYA transcriptional coactivator and phosphatase 1

中国数据库中基因全称：

EYA转录共激活因子和磷酸酶1

基因检测报告英文版基因简介

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]

基因突变所影响的基因信息

该基因编码不存在眼的蛋白质（EYA）家族的成员。编码的蛋白质可能在发育中的肾脏，branch弓，眼睛和耳朵中起作用。该基因的突变与支气管肾发育不良综合症，支气管综合症以及先天性白内障和眼前节异常的零星病例有关。小鼠中类似的蛋白质可以充当转录激活因子。已经为该基因鉴定了剪接的转录物变体。[由RefSeq提供，2013年12月]

国际国内该碱基基因序列的其他英语文字母简称：

BOP, BOR, BOS1, OFC1

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第8号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：72109668；结束位置坐标为：72459888。该基因序列在GRCh38版本中的起始位置坐标为：71197433；结束位置坐标为：71548130。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

佳学基因解码对该基因的功能分类：国际版

Enzymes/ENZYME proteins/Hydrolases

基因解码对该基因的功能分类：中文版

酶/酶蛋白/水解酶

结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

Nuclear bodies;Nucleoplasm

结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

核体；核质

该基因序列变化后增加的疾病风险（国际版）：

Otofaciocervical Syndrome; Abnormal collecting system; Asymmetric crying face association; BRANCHIOOTIC SYNDROME 1; Cholesteatoma; Enlarged cochlear aqueduct; Fara Chlupackova syndrome; Fistula of branchial cleft; Gustatory lacrimation; Malrotation of kidney; Abnormality of the cerebrum; Branchioma; Euthyroid Goiter; Incomplete partition of the cochlea type II; Long neck; Malformed ossicles; Mondini malformation; Branchio-Oto-Renal Syndrome; Deep overbite; Overbite; Posterior lingual occlusion of mandibular teeth; Renal steatosis; Bulbous internal auditory canal; Cochlear malformation; Middle ear malformations; Hypoplastic cochlea; Renal hypoplasia/aplasia; Abnormality of the antihelix; Congenital Abnormality; Hearing Loss, Mixed Conductive-Sensorineural; Narrowing of ear canal; Stenosis of external auditory canal; Abnormality of the clavicle; Congenital malrotation of intestine; Capuchin ears; Cupped ears (finding); Polycystic Kidney - body part; Preauricular skin tag; Skin tag on the posterior cheek; Polycystic Kidney Diseases; Sloping shoulders; Absent auditory canals; Absent external auditory canals; Atresia of the external auditory canal; Atretic auditory canal; Narrow nose; Scapular weakness; Winged scapula; Abnormal dermatoglyphic pattern; RENAL ADYSPLASIA; Renal dysplasia; Cleft uvula; Preauricular dimple; Preauricular sinus; Preauricular Fistulae, Congenital; Congenital absence of kidney; Vesico-Ureteral Reflux; Malformed pinnae; Congenital small ears; Hip Dislocation, Congenital; Chubby cheeks; Full cheeks; Hyperplasia of cheeks; Hypertrophy of cheeks; Puffy cheeks; Narrow face; Thin face; Retrognathia; Prominent ear; Protruding ears; Congenital Heart Defects; Decreased width of tooth; Microdontia (disorder); Speech Disorders; Decreased size of teeth; Long face; Mild Mental Retardation; Large auricle; Large dysplastic ears; Large pinnae; Large prominent ears; Large protruding ears; Large, floppy ears; Macrotia; Muscle Hypertonia; Conductive hearing loss; Delayed bone age; Craniofacial Abnormalities; Highly variable severity; Variable expressivity; Uranostaphyloschisis; Low set ears; Congenital deafness; Hearing Loss, Partial; Anteverted nostril; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; Cleft Palate; hearing impairment; Hyperreflexia; Sensorineural Hearing Loss (disorder); Short stature; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability

如果该基因突变后，风险可能增加的疾病类型（中文版）：

耳面颈综合征；采集系统异常；不对称的哭脸联想；支气管综合症 2型；胆脂瘤;扩大的耳蜗导水管； Fara Chlupackova 综合症；鳃裂瘘；味觉流泪；肾脏旋转不良；大脑异常;鳃瘤;甲状腺肿大； II 型耳蜗分割不全；长颈;畸形的小骨;蒙迪尼畸形；鳃-耳-肾综合征；深覆合；覆合；下颌牙齿的后舌咬合；肾脂肪变性；球状内耳道；耳蜗畸形；中耳畸形；发育不良的耳蜗;肾发育不全/发育不全；反螺旋异常；先天性异常；听力损失混合传导-感觉神经性；耳道变窄；外耳道狭窄；锁骨异常;先天性肠旋转不良；卷尾猴的耳朵；杯状耳朵（发现）；多囊肾 - 身体部位；耳前皮赘；脸颊后部的皮肤标签；多囊肾病；倾斜的肩膀;没有耳道；没有外耳道；外耳道闭锁;听道闭锁；窄鼻子；肩胛无力；翼状肩胛;异常的皮纹图案；肾发育不良；肾发育不良;悬雍垂裂；耳前酒窝;耳前窦;先天性耳前瘘；先天性无肾；膀胱输尿管反流；畸形耳廓；先天性小耳朵；髋关节脱位先天性；胖嘟嘟的脸颊;饱满的脸颊；脸颊增生;脸颊肥大;浮肿的脸颊；窄脸；瘦脸;后颌畸形；突出的耳朵；突出的耳朵;先天性心脏缺陷；牙齿宽度减小；小牙症（疾病）；言语障碍；牙齿变小；拉长着脸;轻度智力低下；大耳廓；发育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松软的耳朵； Macrotia;肌肉张力亢进；传导性听力损失；骨龄延迟；颅面异常；高度可变的严重性；可变表现力； Uranostaphyloschisis;低位耳朵；先天性耳聋；部分听力损失；鼻孔前倾；拜占庭拱形上颚；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聋；腭裂；听力受损;反射亢进；感音神经性听力损失（障碍）；身材矮小；认知延迟；整体发育迟缓；智力和运动迟缓；智力迟钝；智力低下；智力低下；精神缺陷；学习成绩差；智力残疾

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

Sleep

GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：

睡觉

以该基因做靶点的药物（国际版）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容

针对该基因所产生的突变，可能有正确效果的药物（中文版）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容